Genomics England

DNA primase subunit 1

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephalic primordial dwarfism, MONDO:0017950, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephalic primordial dwarfism, MONDO:0017950, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephalic primordial dwarfism, MONDO:0017950, Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005