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| BabyScreen+ newborn screening v1.114 | FCHO1 |
Tommy Li Added phenotypes Immunodeficiency 76, MIM# 619164 for gene: FCHO1 Publications for gene FCHO1 were updated from 32098969; 30822429 to 30822429; 32098969 |
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| BabyScreen+ newborn screening v0.1950 | FCHO1 | Zornitza Stark Marked gene: FCHO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1950 | FCHO1 | Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1950 | FCHO1 | Zornitza Stark Classified gene: FCHO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1950 | FCHO1 | Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1949 | FCHO1 | Zornitza Stark edited their review of gene: FCHO1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1949 | FCHO1 |
Zornitza Stark gene: FCHO1 was added gene: FCHO1 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: FCHO1. Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FCHO1 were set to 32098969; 30822429 Phenotypes for gene: FCHO1 were set to Immunodeficiency 76, MIM# 619164 Added comment: More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data. Immunodeficiency-76 (IMD76) is an autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Treatment: bone marrow transplant. Non-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile, immunoglobulin levels Sources: Expert list |
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