PRIM1

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber PRIM1 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Amber PRIM1 in Mendeliome Version 1.1902	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 Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	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 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 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 Tags deep intronic founder

5 panels