PRIM1

DNA primase subunit 1
OMIM: 176635, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PRIM1 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.11

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MONDO:0859276

Green PRIM1 in Mendeliome


Version 2.594

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MONDO:0859276

Green PRIM1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.32

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MONDO:0859276

Green PRIM1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.10

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Literature
    Phenotypes
    • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MONDO:0859276

    Green PRIM1 in Growth failure


    Version 2.28

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MONDO:0859276

    Green PRIM1 in Fetal anomalies


    Version 2.81

    3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MONDO:0859276