PRIM1

DNA primase subunit 1
OMIM: 176635, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber PRIM1 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Green PRIM1 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 Tags deep intronic founder
Amber PRIM1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.301	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 Tags deep intronic founder
Green PRIM1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.115 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276
Amber PRIM1 in Microcephalic Primordial Dwarfism and Slender bone dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 Tags deep intronic founder
Amber PRIM1 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 Tags deep intronic founder