Genomics England
GMS Panels
Panels
Genes and Entities
PAX1
paired box 1
OMIM:
167411
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Panel
Mode of inheritance
Details
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Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers:
R15
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Otofaciocervical syndrome 2, 615560, Syndromic SCID, dysmorphism, ear abnormalities, otofaciocervical syndrome